Thanatophoric dysplasia and cloverleaf skull

Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty‐two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. U is concluded that there are two types of TD: type l, with curved femora and very flat vertebral b...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics 1987, Vol.28 (S3), p.167-179
Hauptverfasser: Langer Jr, Leonard O., Yang, S. Samuel, Hall, Judith G., Sommer, Annemarie, Kottamasu, Sambasiva R., Golabi, Mahin, Krassikoff, Natalie, Opitz, John M., Bernstein, Jay
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty‐two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. U is concluded that there are two types of TD: type l, with curved femora and very flat vertebral bodies; and type 2, with straight femora and taller vertebral bodies. Consistent but subtle histopathological characteris‐tics differentiate the two types. Only a very few type l cases have CS, and the CS is mild. Almost all type 2 cases have severe CS.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320280521